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Development ePress online publication date 21 Jun 2006
doi: 10.1242/dev.02457
Research Article: Development and Disease
The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development
Masayo Sakaki-Yumoto,
Chiyoko Kobayashi,
Akira Sato,
Sayoko Fujimura,
Yuko Matsumoto,
Minoru Takasato,
Tatsuhiko Kodama,
Hiroyuki Aburatani,
Makoto Asashima,
Nobuaki Yoshida,
and
Ryuichi Nishinakamura*
* Author for correspondence (e-mail: ryuichi{at}kaiju.medic.kumamoto-u.ac.jp)
Mutations in SALL4, the human homolog of the Drosophila homeotic gene spalt (sal), cause the autosomal dominant disorder known as Okihiro syndrome. In this study, we show that a targeted null mutation in the mouse Sall4 gene leads to lethality during peri-implantation. Growth of the inner cell mass from the knockout blastocysts was reduced, and Sall4-null embryonic stem (ES) cells proliferated poorly with no aberrant differentiation. Furthermore, we demonstrated that anorectal and heart anomalies in Okihiro syndrome are caused by Sall4 haploinsufficiency and that Sall4/Sall1 heterozygotes exhibited an increased incidence of anorectal and heart anomalies, exencephaly and kidney agenesis. Sall4 and Sall1 formed heterodimers, and a truncated Sall1 caused mislocalization of Sall4 in the heterochromatin; thus, some symptoms of Townes-Brocks syndrome caused by SALL1 truncations could result from SALL4 inhibition.
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